Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Aplasia cutis congenita of scalp (HP:0007385)

Parent Node:
Aplasia cutis congenita over parietal area (HP:0004476)

..Starting node
..Aplasia cutis congenita over posterior parietal area (HP:0007590)

Term ID:

7590

Name:

Aplasia cutis congenita over posterior parietal area

Synonym:

Definition:

Comments:

Reference:

HP:0007590

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007590	HP:0007590	Aplasia cutis congenita over posterior parietal area	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	147

Genes (1) :ARHGAP31

Diseases (1) :OMIM:100300

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.